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对印度东北部梅加拉亚邦少数民族人口口腔癌的全基因组 DNA 甲基化分析揭示了新的基因。

Whole genome DNA methylation profiling of oral cancer in ethnic population of Meghalaya, North East India reveals novel genes.

机构信息

Department of Zoology, North Eastern Hill University (NEHU), Shillong, India.

Department of Otorhinolaryngology (ENT), North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences (NEIGRIHMS), Shillong, India.

出版信息

Genomics. 2018 Mar;110(2):112-123. doi: 10.1016/j.ygeno.2017.09.002. Epub 2017 Sep 7.

Abstract

Oral Squamous Cell Carcinoma (OSCC) is a serious and one of the most common and highly aggressive malignancies. Epigenetic factors such as DNA methylation have been known to be implicated in a number of cancer etiologies. The main objective of this study was to investigate physiognomies of Promoter DNA methylation patterns associated with oral cancer epigenome with special reference to the ethnic population of Meghalaya, North East India. The present study identifies 27,205 CpG sites and 3811 regions that are differentially methylated in oral cancer when compared to matched normal. 45 genes were found to be differentially methylated within the promoter region, of which 38 were hypermethylated and 7 hypomethylated. 14 of the hypermethylated genes were found to be similar to that of the TCGA-HNSCC study some of which are TSGs and few novel genes which may serve as candidate methylation biomarkers for OSCC in this poorly characterized ethnic group.

摘要

口腔鳞状细胞癌(OSCC)是一种严重的疾病,也是最常见和侵袭性最强的恶性肿瘤之一。已知表观遗传因素,如 DNA 甲基化,与许多癌症的病因有关。本研究的主要目的是研究与口腔癌表观基因组相关的启动子 DNA 甲基化模式的特征,特别是针对印度东北部梅加拉亚邦的民族群体。本研究在口腔癌与匹配的正常组织相比时,确定了 27205 个 CpG 位点和 3811 个区域存在差异甲基化。在启动子区域内发现了 45 个差异甲基化的基因,其中 38 个是高甲基化的,7 个是低甲基化的。在 38 个高甲基化基因中,有 14 个与 TCGA-HNSCC 研究相似,其中一些是 TSGs,还有一些新的基因可能作为该特征不明显的民族群体中 OSCC 的候选甲基化生物标志物。

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